A news piece in Nature outlines some of the recent developments in clinical use of whole genome sequencing. Past examples are cited ranging from the identification of mutations causing Miller Syndrome and a secondary genetic disorder in one family (see previous news) to the selection of an appropriate therapy for a woman with leukaemia (see previous news).
Recent research has also produced new synthetic human genome reference sequences, and its use in analysis of genomes from a family with inherited thrombophilia. The new forms of reference sequence were adjusted to represent typical healthy genomes from three different ethnic groups, the better to identify disease-associated variants from a common genetic background. In this instance, researchers were able to identify multiple variants associated with increased risk of blood clotting disorders in an affected father and his daughter, as well as to predict appropriate types and doses of drug treatments.
The scientists and clinicians interviewed in Nature seem sure that widespread clinical adoption is inevitable as the speed of sequencing continues to increase and the costs fall. However, there are concerns about what this will mean in practice, with issues such as incidental (unexpected) findings, a lack of genomic expertise within health systems, and the difficulties of interpreting the clinical implications of highly complex genomic data.
The first definitive analysis of the impact of whole genome sequencing on a health system, the PHG Foundation’s significant new report Next Steps in the Sequence will be launched in London on 24th October. Focusing on the UK National Health Service (NHS), this report considers both recent and likely future technical developments in genome sequencing, which applications will be used first in clinical practice, and the logistical, educational, ethical and economic issues that will arise.